Overview: Anybody who has this disease has a shortage of red blood cells. They typically experience yellowing of the skin and eyes and an enlarged spleen (splenomegaly). Splenomegaly can occur at anytime through the persons lifetime. There are four forms of this disease which are classified by their severity are mild, moderate, moderate/severe, and severe. This disease occurs in 1 in 2,000 people. (1)
Signs and Symptoms: people with the mild form may experience some yellowing of the skin and eyes or they can even have no symptoms. People with the moderate form have a shortage of red blood cells and their skin and eyes will be much yellower than people with the mild form. They may also have splenomegaly. Additionally, these people may develop gallstones, which are hard deposits in the gallbladder. These people will experience these symptoms during their childhood. People with the moderate/severe form have the same symptoms as those with the moderate form, but they will experience an extremely severe shortage of red blood cells. Those with the severe form will experience extreme yellowing of the skin and eyes, splenomegaly, and a life threatening shortage of red blood cells. These people require frequent blood transfusions to replenish their red blood cell supply and many people with this form have short stature, delayed sexual development, and skeletal abnormalities. (1)
Genetics: This disease is caused by a dominant allele. There is only one type of this disease, but there are different severity's of this disease as explained in the signs and symptoms section above. It is equally common to all genders. This disease is caused by a mutation in the ANK1 gene. This mutation stops proteins in the red blood cell membrane from working correctly, which causes the cell to be overly rigid and instead of having a normal, flat, disc shape, it has a spherical shape. This causes the red blood cells to be taken out of circulation and sent to the spleen to be destroyed. This disorder is found on chromosome #8. (2)
Distribution: Mostly people of Northern European descent have this disease, this disease is almost nonexistent in other people with other ethnic backgrounds. This disease is most prevalent in Europe because this is where the disease originated. (1)
Management andTreatment: There is no cure for this disease. Although, it can be treated by having surgery to remove the spleen, which will help the red blood cells live longer and it will prevent gallstones. Only people with the most severe form of this disease will need surgery. People with more milder forms can take B vitamins to help them produce new red blood cells. Also, if you have severe symptoms from this disease, you may need to have monthly blood transfusions to replenish your red blood cells. In infants, doctors may use light therapy to help with their jaundice. Additionally, people with this disease should get vaccinations for many types of infections since infections can trigger the destruction of red blood cells in people with this disease. (2)
Society and Culture: People that are affected with this disease have a hard time living a normal life. When being active, or participating in sports, it is hard for the people affected with this disease to keep up with their teammates or friends, and also when they are active for a short period they get tired very quickly. People affected look in some cases fine on the outside but on the inside they physically cannot do it anymore because their blood level becomes very low, to help with that, the doctors in some cases remove their spleen. (3)
This is a picture of somebody who has the jaundice associated with Hereditary Spherocytosis.
Here is a video of a boy who is affected by this disease:
History: Hereditary Spherocytosis was first discovered in 1871 and it was mostly inherited in Northern Europe and North America. 1 in 5,000 births are affected with this disease. While passing on the disease, Hereditary Spherocytosis is autosomal dominate, in others that are not it is autosomal recessive. Babies and Young Children are usually the ones most affected. Those who are diagonsed early have quite a bad case of the disease but if not diagnosed early it is not as severe in most cases.. ( 4 )
Further Research: Futher Research is needed to figure out why some people get diagnosed earlier than others and some do not know till they are older, even tho mostly young children are affected with this disease, some symptoms come later in life for some people, as an example, Splenomegaly can happen at any time. Since this disease is quite rare, there should be much more research about this disease. ( 4)
Miscellaneous: Hereditary Spherocytosis is quite a rare disease, most people do not have it nor people who influence today's society, But a boy made headlines for the disease in 2004 and it was a tragic death, He was a freshman in high school. After football practice he did not feel well, and he died that day of shortage of oxygen carrying red blood cells, the cause being Hereditary Spherocytosis. (5) (linked in the number is the news headline of the boy who passed away)
here are so facts about Hereditary Spherocytosis you can also get many other health issues while having the disease, as in...
anemia
paleness
jaundice
splenomegaly
gallbladder problems
If affected this disease could be very hard to fight and in some cases you don't even know you have it. (3)
Hereditary Spherocytosis
Overview: Anybody who has this disease has a shortage of red blood cells. They typically experience yellowing of the skin and eyes and an enlarged spleen (splenomegaly). Splenomegaly can occur at anytime through the persons lifetime. There are four forms of this disease which are classified by their severity are mild, moderate, moderate/severe, and severe. This disease occurs in 1 in 2,000 people. (1)
Signs and Symptoms: people with the mild form may experience some yellowing of the skin and eyes or they can even have no symptoms. People with the moderate form have a shortage of red blood cells and their skin and eyes will be much yellower than people with the mild form. They may also have splenomegaly. Additionally, these people may develop gallstones, which are hard deposits in the gallbladder. These people will experience these symptoms during their childhood. People with the moderate/severe form have the same symptoms as those with the moderate form, but they will experience an extremely severe shortage of red blood cells. Those with the severe form will experience extreme yellowing of the skin and eyes, splenomegaly, and a life threatening shortage of red blood cells. These people require frequent blood transfusions to replenish their red blood cell supply and many people with this form have short stature, delayed sexual development, and skeletal abnormalities. (1)
Genetics: This disease is caused by a dominant allele. There is only one type of this disease, but there are different severity's of this disease as explained in the signs and symptoms section above. It is equally common to all genders. This disease is caused by a mutation in the ANK1 gene. This mutation stops proteins in the red blood cell membrane from working correctly, which causes the cell to be overly rigid and instead of having a normal, flat, disc shape, it has a spherical shape. This causes the red blood cells to be taken out of circulation and sent to the spleen to be destroyed. This disorder is found on chromosome #8. (2)
Distribution: Mostly people of Northern European descent have this disease, this disease is almost nonexistent in other people with other ethnic backgrounds. This disease is most prevalent in Europe because this is where the disease originated. (1)
Management and Treatment: There is no cure for this disease. Although, it can be treated by having surgery to remove the spleen, which will help the red blood cells live longer and it will prevent gallstones. Only people with the most severe form of this disease will need surgery. People with more milder forms can take B vitamins to help them produce new red blood cells. Also, if you have severe symptoms from this disease, you may need to have monthly blood transfusions to replenish your red blood cells. In infants, doctors may use light therapy to help with their jaundice. Additionally, people with this disease should get vaccinations for many types of infections since infections can trigger the destruction of red blood cells in people with this disease. (2)
Society and Culture: People that are affected with this disease have a hard time living a normal life. When being active, or participating in sports, it is hard for the people affected with this disease to keep up with their teammates or friends, and also when they are active for a short period they get tired very quickly. People affected look in some cases fine on the outside but on the inside they physically cannot do it anymore because their blood level becomes very low, to help with that, the doctors in some cases remove their spleen. (3)
Here is a video of a boy who is affected by this disease:
History: Hereditary Spherocytosis was first discovered in 1871 and it was mostly inherited in Northern Europe and North America. 1 in 5,000 births are affected with this disease. While passing on the disease, Hereditary Spherocytosis is autosomal dominate, in others that are not it is autosomal recessive. Babies and Young Children are usually the ones most affected. Those who are diagonsed early have quite a bad case of the disease but if not diagnosed early it is not as severe in most cases.. ( 4 )
Further Research: Futher Research is needed to figure out why some people get diagnosed earlier than others and some do not know till they are older, even tho mostly young children are affected with this disease, some symptoms come later in life for some people, as an example, Splenomegaly can happen at any time. Since this disease is quite rare, there should be much more research about this disease. ( 4)
Miscellaneous: Hereditary Spherocytosis is quite a rare disease, most people do not have it nor people who influence today's society, But a boy made headlines for the disease in 2004 and it was a tragic death, He was a freshman in high school. After football practice he did not feel well, and he died that day of shortage of oxygen carrying red blood cells, the cause being Hereditary Spherocytosis. (5) (linked in the number is the news headline of the boy who passed away)
here are so facts about Hereditary Spherocytosis you can also get many other health issues while having the disease, as in...
- anemia
- paleness
- jaundice
- splenomegaly
- gallbladder problems
If affected this disease could be very hard to fight and in some cases you don't even know you have it. (3)Check out these other amazing pages on diseases:
Cri du chat , DiGeorge Syndrome and Autosomal Dominant
References:
1 - (https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis) Date Published/Updated: 1 September 2013, Date Accessed: 26 April 2018, Author: Genetics Home Reference
2 - (https://www.healthline.com/health/congenital-spherocytic-anemia) Date Published/Updated: 22 June 2017, Date Accessed: 2 May 2018, Author: Carmella Wint from Health Line
3- ( https://emedicine.medscape.com/article/206107-clinical#b1)
4- ( https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975852 )
5- ( http://www.toledoblade.com/Medical/2004/11/11/Blood-disorder-blamed-for-death-of-athlete-15.html )